Worries and needs of adults and parents of adults with neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow‐up of adults with NF1 often focuses on tumor growth, follow‐up of cognitive or social problems and other NF1‐related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. A qualitative study was performed using semi‐structured group interviews, exploring worries and care needs in medical, psychological, and socioeconomic domains, also focusing on the transition from pediatric to adult care. Four focus groups were conducted, including young adult patients, patients over age 30, and parents of young adult patients. In total, 30 patients and 12 parents participated. Data were transcribed verbatim and analyzed by computerized thematic analysis. Themes were organized using the World Health Organization International classification of functioning, disability, and health (ICF). Results indicated many and diverse worries and care needs both during the transitional period and in adulthood in medical, mental health, and socioeconomic domains. Worries could be categorized into 13 themes. Parents reported high stress levels and difficulties with their parental role. Participants expressed the need for more information, access to NF1 experts, daily living support, care for mental health and socioeconomic participation, and closer communication between health‐care providers. In conclusion, worries and needs of patients and parents underline the importance of multidisciplinary follow‐up and continuity of care during and after the transitional period. Additionally, parental stress requires more attention from care providers.

Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

“…Information and appropriate support in the work and living environment could alleviate the stress caused by limited independency. Additionally, peer groups can have a significant positive impact, as has been mentioned by youngsters with Neurofibromatosis Type 1 (Rietman et al 2018). Lastly, inclusion in appropriate physical activities will improve participation as well as physical and mental health.…”

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

“…Physical symptoms of NF1 and NF2 can interfere with typical patterns of communication (Arnold, Payne, Lorenzo, North, & Barton, 2018; Thompson, 2018). Difficulties with communication can negatively impact self‐esteem and quality of life, relationships among family and friends, the ability to adequately communicate particularly in public spaces, and the ability to perform appropriately at work and school (Cosetti, Golfinos, & Roland, 2015; Ferner et al., 2014; Rietman et al., 2018). Therefore, it is important to evaluate individuals with NF for possible communication challenges and refer appropriately for treatment.…”

Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

“…Only one qualitative study of 30 adults with NF1 addressed the association between disease characteristics and the need for and received support (Rietman et al, 2018). Their findings suggested worries and needs for support in medical‐, mental health‐, and socioeconomic domains (including finances, relationships, and family planning) in young and adult persons with NF1 (Rietman et al, 2018). In our study, up to 20% of adults with NF1 reported a need for support, and adults with severe disease in particular experienced needs for physical, work‐related, and economic support.…”